MRXS7
MCID: SYN056
MIFTS: 16

Syndromic X-Linked Intellectual Disability 7 (MRXS7)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Syndromic X-Linked Intellectual Disability 7

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability 7:

Name: Syndromic X-Linked Intellectual Disability 7 12 58
X-Linked Intellectual Disability, Ahmad Type 12 58
Mrxs7 12 58
Mental Retardation, X-Linked, Syndromic 7 71

Characteristics:

Orphanet epidemiological data:

58
syndromic x-linked intellectual disability 7
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060808
MeSH 43 C537449
MESH via Orphanet 44 C537449
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1846170
Orphanet 58 ORPHA85274
UMLS 71 C1846170

Summaries for Syndromic X-Linked Intellectual Disability 7

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has material basis in variation in the chromosome region Xp11.3-q22.

MalaCards based summary : Syndromic X-Linked Intellectual Disability 7, also known as x-linked intellectual disability, ahmad type, is related to hypogonadism. Related phenotypes are obesity and intellectual disability, moderate

Related Diseases for Syndromic X-Linked Intellectual Disability 7

Diseases in the Syndromic X-Linked Intellectual Disability family:

Syndromic X-Linked Intellectual Disability 12 Syndromic X-Linked Intellectual Disability 7
Syndromic X-Linked Intellectual Disability Type 10 Syndromic X-Linked Intellectual Disability 14

Diseases related to Syndromic X-Linked Intellectual Disability 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadism 10.3

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability 7

Human phenotypes related to Syndromic X-Linked Intellectual Disability 7:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
2 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
3 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
4 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
7 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
8 sparse body hair 58 31 frequent (33%) Frequent (79-30%) HP:0002231
9 misalignment of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000692
10 incomprehensible speech 58 31 frequent (33%) Frequent (79-30%) HP:0002546
11 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
12 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
13 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
14 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
15 hypoplasia of penis 58 Frequent (79-30%)

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability 7

Search Clinical Trials , NIH Clinical Center for Syndromic X-Linked Intellectual Disability 7

Genetic Tests for Syndromic X-Linked Intellectual Disability 7

Anatomical Context for Syndromic X-Linked Intellectual Disability 7

Publications for Syndromic X-Linked Intellectual Disability 7

Articles related to Syndromic X-Linked Intellectual Disability 7:

# Title Authors PMID Year
1
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. 61
10573017 1999

Variations for Syndromic X-Linked Intellectual Disability 7

Expression for Syndromic X-Linked Intellectual Disability 7

Search GEO for disease gene expression data for Syndromic X-Linked Intellectual Disability 7.

Pathways for Syndromic X-Linked Intellectual Disability 7

GO Terms for Syndromic X-Linked Intellectual Disability 7

Sources for Syndromic X-Linked Intellectual Disability 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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